15q24 microdeletion syndrome
ORPHA:94065Etiological subtypeNot applicable, UnknownChildhood
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)1
HP:0001263Global developmental delay
Частый (30–79%)16
HP:0001382Joint hypermobility
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000356Abnormality of the outer ear
HP:0000494Downslanted palpebral fissures
HP:0000708Atypical behavior
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001518Small for gestational age
HP:0002719Recurrent infections
HP:0004322Short stature
HP:0008897Postnatal growth retardation
HP:0009890High anterior hairline
HP:0011229Broad eyebrow
Периодический (5–29%)34
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0005280Depressed nasal bridge
HP:0009623Proximal placement of thumb
HP:0011100Intestinal atresia
HP:0011968Feeding difficulties
HP:0012810Wide nasal base
HP:0030084Clinodactyly
HP:0030260Microphallus
HP:0100790Hernia
HP:0200055Small hand
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000179Thick lower lip vermilion
HP:0000252Microcephaly
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000365Hearing impairment
HP:0000426Prominent nasal bridge
HP:0000486Strabismus
HP:0000589Coloboma
HP:0000639Nystagmus
HP:0000776Congenital diaphragmatic hernia
HP:0000824Decreased response to growth hormone stimulation test
HP:0001172Abnormal thumb morphology
HP:0001508Failure to thrive
HP:0001513Obesity
HP:0001627Abnormal heart morphology
HP:0001780Abnormality of toe
HP:0002023Anal atresia
Очень редкий (1–4%)1
HP:0002475Myelomeningocele
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)